| Enhancer ID: | E_01_0951 |
| Species: | human |
| Position : | chr7:27097694-27099694 |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Bilateral microtia |
| Pubmed ID: | 32649979 |
| Enhancer experiment: | PCR |
| Enhancer experiment description: | Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. |
| Target gene : | HMX1 |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1.;Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. |
| TF name : | HOXA2 |
| TF experiment: | PCR |
| TF experiment description: | Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1.;Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. |
| Enhancer function : | Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. |
| SNP ID: | -- |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| HOXA2 | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |